Associated Papers
L-serine deficiency: on the properties of the Asn133Ser variant of human phosphoserine phosphatase.
Pollegioni L et al.
Scientific Reports, 2024
On the phenotypic spectrum of serine biosynthesis defects.
El-Hattab AW et al.
Journal of Inherited Metabolic Disease, 2016
Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures.
Byers HM et al.
Jimd Reports, 2016
Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan.
Vincent JB et al.
Clinical Genetics, 2015
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